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Type I Gaucher disease (GDI) in three siblings: enzyme replacement treatment (ERT) required

Z S Gucev1, V Tasic, N Pop-Jordanova

  • 1University Children's Diseases Clinic, Faculty of Medicine, Skopje, R. Macedonia. gucevz@gmail.com

Prilozi
|September 9, 2009
PubMed

Insights

Gaucher disease (GD1) in three siblings was diagnosed due to the N370S mutation. Enzyme replacement therapy is recommended for all Macedonian GD1 patients, as splenectomy poses risks and doesn't address bone issues.

Area of Science:

  • Medical Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Gaucher disease (GD) is a lysosomal storage disorder.
  • Type 1 Gaucher disease (GD1) is the most common form, characterized by enzyme deficiency leading to glucocerebroside accumulation.
  • Genetic mutations, such as N370S, are key in GD1 pathogenesis.

Observation:

  • A family presented with three siblings diagnosed with Gaucher disease.
  • The index patient exhibited significant hepatosplenomegaly and mild pancytopenia.
  • Bone marrow analysis revealed Gaucher cells in all three siblings.

Findings:

  • Enzyme analysis confirmed low glucocerebrosidase activity in all affected siblings.
  • Genetic testing identified homozygosity for the N370S/N370S mutation in all three.
  • One sibling had undergone splenectomy prior to diagnosis, while the index child was splenectomized due to disease severity.

Implications:

  • Splenectomy in GD1 patients carries risks and does not resolve bone complications.
  • Enzyme replacement therapy (ERT) is crucial for managing GD1, particularly in the absence of readily available treatments.
  • There is a critical need to introduce ERT for all GD1 patients in Macedonia.

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